Incidental Mutation 'R5035:Dab2ip'
| ID |
389485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2ip
|
| Ensembl Gene |
ENSMUSG00000026883 |
| Gene Name |
disabled 2 interacting protein |
| Synonyms |
2310011D08Rik, AIP1 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35599953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 190
(S190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065001]
[ENSMUST00000091010]
[ENSMUST00000112983]
[ENSMUST00000112986]
[ENSMUST00000112987]
[ENSMUST00000112992]
[ENSMUST00000135741]
[ENSMUST00000145698]
|
| AlphaFold |
Q3UHC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065001
AA Change: S182G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: S182G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
10 |
139 |
3.63e-2 |
SMART |
|
C2
|
149 |
245 |
1.34e-7 |
SMART |
|
RasGAP
|
255 |
592 |
1.08e-126 |
SMART |
|
low complexity region
|
604 |
616 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
629 |
694 |
4e-29 |
BLAST |
|
low complexity region
|
733 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
873 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1095 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091010
AA Change: S247G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: S247G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
39 |
N/A |
INTRINSIC |
|
PH
|
73 |
204 |
5.58e-3 |
SMART |
|
C2
|
214 |
310 |
1.34e-7 |
SMART |
|
RasGAP
|
320 |
657 |
1.08e-126 |
SMART |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
694 |
759 |
4e-29 |
BLAST |
|
low complexity region
|
798 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
938 |
N/A |
INTRINSIC |
|
coiled coil region
|
1026 |
1160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112981
|
| SMART Domains |
Protein: ENSMUSP00000108605
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
2 |
80 |
6e-35 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112983
AA Change: S123G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: S123G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
C2
|
90 |
186 |
1.34e-7 |
SMART |
|
RasGAP
|
196 |
533 |
1.08e-126 |
SMART |
|
low complexity region
|
545 |
557 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
570 |
635 |
3e-29 |
BLAST |
|
low complexity region
|
674 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
814 |
N/A |
INTRINSIC |
|
coiled coil region
|
902 |
1036 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112986
AA Change: S219G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: S219G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
45 |
176 |
5.58e-3 |
SMART |
|
C2
|
186 |
282 |
1.34e-7 |
SMART |
|
RasGAP
|
292 |
629 |
1.08e-126 |
SMART |
|
low complexity region
|
641 |
653 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
666 |
731 |
4e-29 |
BLAST |
|
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
910 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112987
AA Change: S190G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: S190G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
147 |
5.58e-3 |
SMART |
|
C2
|
157 |
253 |
1.34e-7 |
SMART |
|
RasGAP
|
263 |
600 |
1.08e-126 |
SMART |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
637 |
702 |
4e-29 |
BLAST |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112992
AA Change: S247G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: S247G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
39 |
N/A |
INTRINSIC |
|
PH
|
73 |
204 |
5.58e-3 |
SMART |
|
C2
|
214 |
310 |
1.34e-7 |
SMART |
|
RasGAP
|
320 |
657 |
1.08e-126 |
SMART |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
694 |
759 |
4e-29 |
BLAST |
|
low complexity region
|
798 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
938 |
N/A |
INTRINSIC |
|
Pfam:DUF3498
|
986 |
1108 |
3.3e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135741
AA Change: S190G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: S190G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
147 |
5.58e-3 |
SMART |
|
C2
|
157 |
253 |
1.34e-7 |
SMART |
|
RasGAP
|
263 |
600 |
1.08e-126 |
SMART |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
637 |
702 |
4e-29 |
BLAST |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124098
AA Change: S140G
|
| SMART Domains |
Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: S140G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
C2
|
108 |
204 |
1.34e-7 |
SMART |
|
RasGAP
|
214 |
551 |
1.08e-126 |
SMART |
|
low complexity region
|
563 |
575 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
588 |
653 |
3e-29 |
BLAST |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
832 |
N/A |
INTRINSIC |
|
coiled coil region
|
919 |
1053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145698
|
| SMART Domains |
Protein: ENSMUSP00000114915
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
3e-18 |
BLAST |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156669
|
| SMART Domains |
Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
RasGAP
|
1 |
283 |
1.97e-88 |
SMART |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
Pfam:DUF3498
|
317 |
594 |
2.9e-78 |
PFAM |
|
Pfam:DUF3498
|
591 |
712 |
4.2e-70 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired IRE1-mediated endoplasmic reticulum (ER) stress-induced responses. Mice homozygous for a gene trap allele exhibit delayed Purkinje cell dendritogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably damaging |
Het |
|
| Other mutations in Dab2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Dab2ip
|
APN |
2 |
35,610,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00799:Dab2ip
|
APN |
2 |
35,597,787 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL00902:Dab2ip
|
APN |
2 |
35,607,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00929:Dab2ip
|
APN |
2 |
35,598,889 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03052:Dab2ip
|
UTSW |
2 |
35,533,909 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0097:Dab2ip
|
UTSW |
2 |
35,608,928 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0137:Dab2ip
|
UTSW |
2 |
35,582,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0184:Dab2ip
|
UTSW |
2 |
35,608,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Dab2ip
|
UTSW |
2 |
35,608,757 (GRCm39) |
splice site |
probably benign |
|
|
R1195:Dab2ip
|
UTSW |
2 |
35,608,757 (GRCm39) |
splice site |
probably benign |
|
|
R1388:Dab2ip
|
UTSW |
2 |
35,611,268 (GRCm39) |
intron |
probably benign |
|
|
R1442:Dab2ip
|
UTSW |
2 |
35,600,268 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1496:Dab2ip
|
UTSW |
2 |
35,608,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Dab2ip
|
UTSW |
2 |
35,610,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Dab2ip
|
UTSW |
2 |
35,608,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Dab2ip
|
UTSW |
2 |
35,533,903 (GRCm39) |
nonsense |
probably null |
|
|
R3819:Dab2ip
|
UTSW |
2 |
35,603,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4333:Dab2ip
|
UTSW |
2 |
35,551,632 (GRCm39) |
makesense |
probably null |
|
|
R4869:Dab2ip
|
UTSW |
2 |
35,610,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Dab2ip
|
UTSW |
2 |
35,620,539 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5180:Dab2ip
|
UTSW |
2 |
35,610,503 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5425:Dab2ip
|
UTSW |
2 |
35,600,003 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5513:Dab2ip
|
UTSW |
2 |
35,600,266 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5579:Dab2ip
|
UTSW |
2 |
35,605,339 (GRCm39) |
nonsense |
probably null |
|
|
R5829:Dab2ip
|
UTSW |
2 |
35,597,787 (GRCm39) |
unclassified |
probably benign |
|
|
R5840:Dab2ip
|
UTSW |
2 |
35,617,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5890:Dab2ip
|
UTSW |
2 |
35,605,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Dab2ip
|
UTSW |
2 |
35,582,267 (GRCm39) |
nonsense |
probably null |
|
|
R6235:Dab2ip
|
UTSW |
2 |
35,613,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Dab2ip
|
UTSW |
2 |
35,600,278 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6571:Dab2ip
|
UTSW |
2 |
35,602,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Dab2ip
|
UTSW |
2 |
35,620,485 (GRCm39) |
nonsense |
probably null |
|
|
R7262:Dab2ip
|
UTSW |
2 |
35,512,298 (GRCm39) |
splice site |
probably null |
|
|
R7883:Dab2ip
|
UTSW |
2 |
35,610,218 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8127:Dab2ip
|
UTSW |
2 |
35,534,138 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8313:Dab2ip
|
UTSW |
2 |
35,617,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Dab2ip
|
UTSW |
2 |
35,609,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8422:Dab2ip
|
UTSW |
2 |
35,597,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8560:Dab2ip
|
UTSW |
2 |
35,603,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9263:Dab2ip
|
UTSW |
2 |
35,602,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9342:Dab2ip
|
UTSW |
2 |
35,613,105 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9353:Dab2ip
|
UTSW |
2 |
35,598,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Dab2ip
|
UTSW |
2 |
35,599,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Dab2ip
|
UTSW |
2 |
35,605,330 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9563:Dab2ip
|
UTSW |
2 |
35,609,915 (GRCm39) |
nonsense |
probably null |
|
|
X0011:Dab2ip
|
UTSW |
2 |
35,613,097 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Dab2ip
|
UTSW |
2 |
35,598,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAACAGCCGCAACTGAC -3'
(R):5'- TTGATTCGGATCATGGGCCC -3'
Sequencing Primer
(F):5'- GACCACTCCAGACCCCTCTTATG -3'
(R):5'- GGTACCACTTCTCCACAAACTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation